Investigative ophthalmology & visual science۲۰۲۵۱۰ استنادنمایه شده در PubMed
Malena Daich Varela, Juan Carlos Romo-Aguas, Rosellina Guarascio, Kalliopi Ziaka, Monica Aguila, Kwan-Leong Hau, Yumei Li, Rui Chen, Angelos Kalitzeos, Anthony G Robson, Rebecca A Baker, Omar A Mahroo, Andrew R Webster, Henry Chan, Nathan B Lubock, Matthew L Albert, Michael E Cheetham, Michel Michaelides
چکیده
The purpose of this study was to describe the largest cohort of RHO-associated retinitis pigmentosa (RP) to date, analyzing the spectrum of phenotypes, variants, disease natural history, and genotype-phenotype correlations. Variants were classified using functional assays, animal models, and…
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DOI: 10.1167/iovs.66.9.69